Improved noninvasive fetal variant calling using standardized benchmarking approaches

Improved noninvasive fetal variant calling using standardized benchmarking approaches

The technology of noninvasive prenatal testing (NIPT) enables risk-free detection of genetic conditions in the fetus, by analysis of cell-free DNA (cfDNA) in maternal blood. For chromosomal abnormalities, NIPT often effectively replaces invasive tests (e.g. amniocentesis), although it is considered...

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Bibliographic Details
Main Authors: Tom Rabinowitz, Shira Deri-Rozov, Noam Shomron
Format: Article
Language:English
Published: Elsevier 2021-01-01
Series:Computational and Structural Biotechnology Journal
Subjects:
Noninvasive prenatal diagnosis
Variant calling
NIPT
NIPD
cell-free DNA
cfDNA
Online Access:http://www.sciencedirect.com/science/article/pii/S2001037020305572

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